ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)

gnomAD frequency: 0.00081  dbSNP: rs139136352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438612 SCV000525920 benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000970563 SCV001118150 benign Glycogen storage disease IXa1 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902552 SCV004724905 benign PHKA2-related condition 2019-03-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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